GeneScribe AI – Detection of DNA Mutations via Reference and Sample Sequence Comparison
Advances in genomics and bioinformatics have revolutionized the detection ofDNA mutations, enabling precise identification of genetic variations linked todiseases, drug resistance, and evolutionary studies. Traditional mutationdetection methods, such as Sanger sequencing and PCR-based techniques, aretime-consuming and often lack scalability for high-throughput analysis. Nextgeneration sequencing (NGS) has improved mutation detection but generatesvast amounts of data that require sophisticated computational tools for accurateinterpretation.GeneScribe AI is an advanced artificial intelligence (AI)-powered bioinformaticstool designed to automate and enhance the detection of DNA mutations bycomparing sample sequences against a reference genome. By leveraging machinelearning (ML) algorithms, alignment optimization, and statistical validation,GeneScribe AI achieves high accuracy in identifying single nucleotidepolymorphisms (SNPs), insertions, deletions (indels), and structural variants (SVs).
Publication Details
- Journal
- Zenodo (CERN European Organization for Nuclear Research)
- Published
- 2025-07-15
- DOI
- https://doi.org/10.5281/zenodo.15895037
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00